Mitochondrial DNA deletion in a girl with Fanconi's syndrome

We report a sporadic large-scale mitochondrial deletion in a paediatric patient with Fanconi's syndrome. Renal biopsy disclosed chronic interstitial nephritis. Ultrastructural examination of the renal tissue showed many giant atypical mitochondria. Histochemical stains revealed markedly reduced...

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Veröffentlicht in:	Pediatric nephrology (Berlin, West) West), 2007-01, Vol.22 (1), p.136-140
Hauptverfasser:	Au, Kam Ming, Lau, Shing Chi, Mak, Yuen Fun, Lai, Wai Ming, Chow, Tat Chong, Chen, Mo Lung, Chiu, Man Chun, Chan, Albert Yan Wo
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Child DNA, Mitochondrial - genetics Electron Transport Complex IV - genetics Electron Transport Complex IV - metabolism Fanconi Syndrome - diagnosis Fanconi Syndrome - genetics Female Gene Deletion Humans Kidney Tubules - metabolism Kidney Tubules - pathology Mitochondria - ultrastructure Mutation - genetics
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